ClinVar Miner

List of variants studied for Ateleiotic dwarfism by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000515.5(GH1):c.217A>G (p.Asn73Asp) rs71640276 0.00026
NM_000515.5(GH1):c.502A>T (p.Thr168Ser) rs771280061 0.00001
NM_000515.5(GH1):c.59G>A (p.Trp20Ter) rs137853219

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